231050.6

Saudi Arabia

Short stature; Bilateral ptosis; Deep palmar crease; Low-set ears; Hypertelorism; Hemangioma; Systolic heart murmur

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001145320.1:c.215G>A	2	NA	Geleophysic Dysplasia 1

Related Subjects

Subject Id	Country	HPO Terms	Remarks
231050.2	Saudi Arabia	Short stature	de novo mutation
231050.3	Saudi Arabia	Short stature; Mitral stenosis; Tricuspid stenosis	de novo mutation
231050.4	Saudi Arabia	Short stature; Hepatomegaly	de novo mutation